Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses

J Craniofac Surg. 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb.


Saldino-Mainzer syndrome is part of a group disorders, the conorenal syndromes, that are characterized by cone-shaped epiphyses with chronic renal disease in childhood and are variously associated with retinitis pigmentosa, cerebral ataxia, and/or abnormalities of the proximal epiphyses and femur metaphyses. Saldino-Mainzer syndrome usually has sporadic presentation. The present report shows the unusual findings of a 23-year-old woman, affected by the Saldino-Mainzer syndrome and has undergone kidney transplantation, highlights the possible association with maxillofacial and cephalometric abnormalities.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Cerebellar Ataxia* / diagnostic imaging
  • Cerebellar Ataxia* / surgery
  • Female
  • Humans
  • Kidney Transplantation*
  • Oral Surgical Procedures*
  • Retinitis Pigmentosa* / diagnostic imaging
  • Retinitis Pigmentosa* / surgery
  • Tomography, X-Ray Computed
  • Young Adult

Supplementary concepts

  • Mainzer-Saldino Disease